The cause of Maple Syrup Urine disease.

Maple Syrup Urine disease is caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes.these four genes are responsible for making proteins that work as a complex. This complex is essential for breaking down the amino acids leucine, isoleucine, and valine. With any mutation within this acid breaking complex would result with a build-up of said acids, which results in Maple Syrup Urine disease along with many other health problems.